Prenatal diagnosis of an SRY-negative XXY female fetus with karyotype of 47,XX,idic(Y)(p11.2)
نویسندگان
چکیده
The SRY gene located on the short arm of the Y chromosome at band Yp11.3 is crucial for the sex determination. In this case, we report an SRY-negative XXY female fetus with karyotype 47,XX,idic(Y)(p11.2) which has not been reported before to our knowledge. A pregnant woman presented to our department for amniocentesis because the noninvasive prenatal testing pointed out abnormal screening results with sex chromosomes. The karyotyping result showed 47,XX,idic(Y)(p11.2). The FISH, PCR and array-CGH analysis showed that there were duplications of Y chromosome from Yp11.2-q21 and deletions of the SRY gene and pseudoautosomal regions (PAR1). The parents decided to undergo termination of pregnancy. The external genitalia of the aborted fetus were similar to female with clitorimegaly. Keyword: SRY idic(Y)
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